ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057548709
Gene: NKX2-5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005233689
ClinVar Variation:
3765973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Ser84Thr
CA362163395
NM_004387.3:c.250T>A